J. Kamp

发表

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

K. Figura, J. Kamp, M. Niermeijer, 1981, Clinical genetics.

The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B

P. Reitsma, G. Ommen, E. Bakker, 2005, Annals of Hematology.

Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia

H. Joenje, A. Eriksson, J. Kamp, 2004, Human Genetics.

A female patient with “Aase syndrome”

J. Kamp, J. Koning, M. H. Weel-Sipman, 1977 .

The 11q;22q translocation: A European collaborative analysis of 43 cases

C. E. Ford, G. Gimelli, A. Hagemeijer, 2004, Human Genetics.

A patient with an interstitial deletion of the short arm of chromosome 6

G. Beverstock, J. Kamp, E. Swaay, 1988, Clinical genetics.

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

J. Maassen, L. Sandkuijl, H. Lemkes, 1992, Nature Genetics.

Somatic origin of inherited haemophilia A

P. Reitsma, P. Pearson, J. Dreesen, 1990, Human Genetics.

Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex

S. Papapoulos, J. Kamp, A. Mudde, 1989, European Journal of Pediatrics.

Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus

I. Liebaers, W. Kleijer, J. Kamp, 1979, Clinical genetics.

The fragile X‐chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981–1986

G. Beverstock, J. Kamp, H. Veenema, 1988, Clinical genetics.

Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships

J. Kamp, M. Giesberts, C. Staalman, 1976, Clinical genetics.

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

J. Hopwood, B. Poorthuis, W. Kleijer, 1999, European Journal of Human Genetics.

Follow-up on seven adult patients with mild Sanfilippo B-disease.

J. Kamp, J. F. Reynolds, H. V. S. L. Valk, 1987 .

Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs

J. Kamp, M. Giesberts, G. Hooghwinkel, 1976, Clinical genetics.

Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III

K. Figura, H. Kresse, C. Bartsocas, 2004, European Journal of Pediatrics.

Sanfilippo syndrome type C: assay for acetyl‐CoA: α‐glucosaminide N‐acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals

K. Figura, J. Kamp, U. Klein, 1981, Clinical genetics.

Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22)

J. Geraedts, A. Bröcker-Vriends, J. Kamp, 1985, Clinical genetics.

Female pseudo-hermaphroditism due to an adrenal tumour in the mother

J. Kamp, A. Seters, A. Moolenaar, 1984, European Journal of Pediatrics.

Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands

R. Wevers, J. Hopwood, B. Poorthuis, 1998, Journal of Inherited Metabolic Disease.

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

J. C. Houwelingen, F. Rosendaal, G. V. Ommen, 1991, Journal of medical genetics.

Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.

F. Veenstra, A. Haeringen, A. van Haeringen, 1989, American journal of medical genetics.

Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay.

R. Frants, H. Joenje, F. Arwert, 1979, Scandinavian journal of clinical and laboratory investigation.